A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744402



Internal ID10325372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:42134535..42134937hg38UCSC Ensembl
Outerchr11:42156085..42156487hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709369, essv6688167, essv6800051, essv6864520, essv6891138, essv6695402, essv6953072, essv6850957, essv6706081, essv6904770, essv6970006, essv6827562, essv6838481, essv6965552, essv6924187, essv6815333, essv6879373, essv6887892, essv6684951, essv6970644, essv6842296, essv6809249, essv6812109, essv6897544, essv6908711, essv6915989, essv6672922, essv6831173, essv6944755, essv6728194, essv6712855, essv6866955, essv6819525, essv6787616, essv6765682, essv6884974, essv6927797, essv6870607
SamplesSSM083, SSM027, SSM075, SSM046, SSM011, SSM097, SSM013, SSM093, SSM042, SSM041, SSM023, SSM028, SSM084, SSM090, SSM018, SSM069, SSM096, SSM089, SSM019, SSM035, SSM031, SSM014, SSM086, SSM081, SSM040, SSM072, SSM078, SSM016, SSM080, SSM037, SSM077, SSM076, SSM095, SSM025, SSM034, SSM004, SSM099, SSM063
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2744402
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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